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. 2009 May;19(5):757–769. doi: 10.1101/gr.085738.108

Figure 6.

Figure 6.

Duplicating KIR loci diversifies the NK cell repertoire in quantity and quality. (A) Schematic of the donor haplotypes and duplication haplotype. (Across the top) The KIR loci; (shaded boxes) indicate presence of the locus. The donor KIR haplotypes B (black) and A (orange); the composite duplication haplotype D is colored accordingly. (Dotted line) Non-allelic homologous recombination that was mediated by sequence similarity in the 5′-regions of 3DP1 and 2DL5A (Martin et al. 2003; Gomez-Lozano et al. 2005). (B) The seven different 2DL4, 3DL1, and 3DL2 haplotypes deduced from analysis of 80 individuals who have the duplication, and their haplotype frequencies in the populations where they were detected. The number of haplotypes analyzed from each population is indicated in parentheses. Georgia is the country. The Piramalai Kaller and the Yadheva are two distinct populations from Tamil Nadu in Southern India. (C) Shown are FACS analyses of freshly isolated 3DL1/S1-expressing NK cells from a European family with a duplicate haplotype. (At the top of each plot) The pyrosequencing genotype. Son 1 inherited 3DS1*013 and 3DL1*002 (haplotype 3, panel B) from the mother and 3DS1*013 from the father. Monoclonal antibody Z27 discriminates 3DL1/S1 allotypes, having high (3DL1*002 and 3DL1*015), low (3DL1*005 and 3DL1*007), and very low (3DS1*013) staining patterns. Showing that 3DL1/S1 expression depends on the number of copies of 3DS1 present, Son 1 has twice the number of 3DS1+ NK cells as the mother or father. Son 2 has inherited the opposite pair of haplotypes to Son 1, and expresses two distinct populations of high (*015) and low (*007) 3DL1 staining and no 3DS1. Further differences among allotypes are quantitative, with *015 being expressed by more cells than *002 (Chan et al. 2003), as observed here by comparing 3DL1 expression of the mother and Son 1. (D) Three unrelated individuals chosen for their 3DL1/S1 genotype. (Left) An individual heterozygous for 3DL1*015 and 3DL1*005 is shown as a negative control for the very low-staining 3DS1*013 peak. (Center and right) Two individuals who both express all three lineages of 3DL1/S1 receptors; these FACS analyses are from NK cells that had been stored frozen. A comparison of fresh and frozen NK cell staining is shown in Supplemental Figure S6.